Newborn Screening News and Research

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Age-related macular degeneration could be arrested by switching to low-glycemic diet, study finds

A study in mice finds that development of age-related macular degeneration (AMD) could be arrested by switching from a high-glycemic diet (starches as are found in white bread) to a low-glycemic (starches found in whole grains).

16 May 2017

New research reveals link between sickle cell trait and increased risk of developing kidney failure

New research indicates that being born with one copy of the sickle gene puts an individual at elevated risk for developing kidney failure requiring dialysis.

10 Mar 2017

FDA grants permission to market new Seeker System for screening rare metabolic disorders in newborns

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns.

3 Feb 2017

Experts update cystic fibrosis guidelines for better diagnosis and personalized treatment

An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis.

31 Jan 2017

Scientists decode genetic profile of rare inherited disorder that can cause genital ambiguity

A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai.

30 Jan 2017

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

The German Institute for Quality and Efficiency in Health Care assessed the benefit of newborn screening for severe combined immunodeficiency (SCID).

30 Jan 2017

New gene therapy for Pompe disease may replace currently available treatments

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients.

27 Jan 2017

Researchers explore ins and outs of genome sequencing in newborns

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests.

19 Jan 2017

Newborns with low levels of vitamin D may more likely develop multiple sclerosis in later life

Babies born with low levels of vitamin D may be more likely to develop multiple sclerosis (MS) later in life than babies with higher levels of vitamin D, according to a study published in the November 30, 2016, online issue of Neurology, the medical journal of the American Academy of Neurology.

30 Nov 2016

Congenital CMV infection highly common among children with cerebral palsy, study finds

Cytomegalovirus is a common herpesvirus that can cross the placenta, infect the fetus and cause damage to the developing brain.

15 Nov 2016

Benefit and harm of tandem mass spectrometry screening for tyrosinaemia type 1 remain unclear

Tyrosinaemia type 1 is a rare, hereditary metabolic disease that, if left untreated, can already lead to serious liver and kidney damage in infancy.

25 Oct 2016

First investigational treatment for infantile-onset SMA shows promising results in clinical trial

A major milestone was reached when nusinersen, an investigational treatment for spinal muscular atrophy (SMA), was shown to significantly improve achievement of motor milestones in babies with infantile-onset SMA, according to an interim analysis of the double-blind, randomized, placebo controlled Phase 3 clinical trial called ENDEAR.

11 Aug 2016

Moderately high TSH concentrations in infants linked to neurodevelopmental outcomes at school age

Babies born with moderately high concentrations of thyroid stimulating hormone have a higher risk of poor educational and development outcomes at school age, a world-first University of Sydney study reveals.

28 Jul 2016

Adding DNA sequencing to newborn screenings may increase early diagnosis of cystic fibrosis

A study by researchers at Children's Hospital Los Angeles, Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second mutation called the 5T allele should receive additional screening in order to better predict the risk of developing CF later in life.

26 Jul 2016

Illumina signs initial customer deals for new Global Screening Array

Illumina, Inc. today announced that it has signed deals with 12 customers for its new Infinium Global Screening Array (GSA).

From Illumina, Inc. 20 Jun 2016

New study sheds light on impact of unknown genetic mutations in cystic fibrosis patients

When it comes to cystic fibrosis (CF), more than 2,000 different genetic mutations have been reported. However, only 200 of them have been categorized - leaving a genetic soup of 1,800 others for scientists and genetic counselors to figure out.

8 Jun 2016

Newborn screen for Niemann-Pick disease type C ready for piloting

Researchers have developed a bile acid-based test that they believe could help screen for Niemann-Pick disease type C in newborns.

6 May 2016

Study emphasizes benefits of newborn screening for CF patients

A new study led by a team from the Research Institute of the McGill University Health Centre and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients.

5 May 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

Enhanced diet helps slow progression of hereditary deafness

An enhanced diet helped reduce hearing loss in mice with the genetic mutation most commonly responsible for childhood deafness, new research suggests.

11 Mar 2016